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Gorham-Stout Disease

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Gorham-Stout Disease is not the name you expected.

Disorder Subdivisions

None

General Discussion

Summary

Gorham-Stout disease (GSD), which is also known as vanishing bone disease, disappearing bone disease, massive osteolysis, and more than a half-dozen other terms in the medical literature, is a rare bone disorder characterized by progressive bone loss (osteolysis) associated with the overgrowth (proliferation) of lymphatic vessels. Affected individuals experience progressive destruction and resorption of bone. Multiple bones may become involved. Areas commonly affected by GSD include the ribs, spine, pelvis, skull, collarbone (clavicle), and the jaws (maxillofacial area). Pain and swelling in the affected area may occur. Bones affected by GSD are prone to reduced bone mass (osteopenia) and fracture. The severity of GSD can vary from one person to another and the disorder can potentially cause disfigurement and functional disability of affected areas. The exact cause of GSD is unknown.

Introduction

While GSD mainly involves the musculoskeletal system, it can involve the viscera, and is closely related to generalized lymphatic anomaly (GLA, also known as lymphangiomatosis). Patients with GLA have multifocal lymphatic malformations. These malformations can be present in bone but do not cause the loss of cortical bone. Lymphatic malformations are rare non-malignant masses consisting of fluid-filled channels or spaces thought to be caused by the abnormal development of the lymphatic system, which includes lymph nodes, the small nodules where certain white blood cells (lymphocytes) and other cells participate in the immune regulatory system of the body. When fluid leaves arteries and enters the soft tissue and organs of the body, it does so without red or white blood cells. This thin watery fluid is known as lymph. The lymphatic system consists of a network of tubular channels (lymph vessels) that transport lymph back into the bloodstream. Lymph accumulates between tissue cells and contains proteins, fats, and lymphocytes. As lymph moves through the lymphatic system, it passes through the network of lymph nodes that help the body to deactivate sources of infection (e.g., viruses, bacteria, etc.) and other potentially injurious substances and toxins. Groups of lymph nodes are located throughout the body, including in the neck, under the arms (axillae), at the elbows, and in the chest, abdomen, and groin. The lymphatic system also includes the spleen, which filters worn-out red blood cells and produces lymphocytes; and bone marrow, which is the spongy tissue inside the cavities of bones that manufactures blood cells. Lymphatic malformations can affect any area of the body (except the brain), but most commonly affect the head and neck. When lymphatic malformations are widespread in bone and soft tissue, the term "lymphangiomatosis" is used. However, definition of the term "lymphangiomatosis" is controversial – if it doesn't involve bone or cortical bone is preserved it will be called GLA. However, if cortical bone is lost it will be called GSD.

GSD is sometimes classified as a form of lymphangiomatosis. GSD was first described in the medical literature in 1838. In 1954, L. Whittington Gorham, MD, and colleagues reported on two affected individuals and then, a year later, provided a comprehensive review of the disorder.

Supporting Organizations

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Lymphangiomatosis & Gorham's Disease Alliance, Inc. (LGDA)

19919 Villa Lante Place

Boca Raton, FL 33434

Tel: (561)441-9766

Email: info@lgdalliance.org

Website: http://www.lgdalliance.org/

Lymphatic Education & Research Network

261 Madison Avenue

9th Floor

New York, NY 10016

USA

Tel: 516-625-9675

Fax: 516-625-9410

Email: LERN@LymphaticNetwork.org

Website: http://www.lymphaticnetwork.org

Lymphatic Malformation Institute

7475 Wisconsin Ave

Suite 600

Bethesda, MD 20814

Email: ngarg@lmiresearch.org

Website: http://www.lmiresearch.org

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

Email: NIAMSinfo@mail.nih.gov

Website: http://www.niams.nih.gov/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 10/9/2014Copyright 2014 National Organization for Rare Disorders, Inc.

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